{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9750815",
  "communityStandardTitle": [
    "NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=350963[alleleid]",
        "alleleId": 350963,
        "preferredName": "NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/338363",
        "RCV": [
          "RCV000355680",
          "RCV002523160"
        ],
        "variationId": 338363
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-3893187-C-T",
        "id": "20-3893187-C-T",
        "variant": "20:3893187 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3893187C>T?assembly=hg19",
        "id": "chr20:g.3893187C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.3912540C>T?assembly=hg38",
        "id": "chr20:g.3912540C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201329683",
        "rs": 201329683
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3893187-C-T?dataset=gnomad_r2_1",
        "id": "20-3893187-C-T",
        "variant": "20:3893187 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3912540-C-T?dataset=gnomad_r3",
        "id": "20-3912540-C-T",
        "variant": "20:3912540 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3912540-C-T?dataset=gnomad_r4",
        "id": "20-3912540-C-T",
        "variant": "20:3912540 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3912540,
          "referenceAllele": "C",
          "start": 3912539
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3912540C>T",
        "CM000682.2:g.3912540C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3893187,
          "referenceAllele": "C",
          "start": 3893186
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3893187C>T",
        "CM000682.1:g.3893187C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3841187,
          "referenceAllele": "C",
          "start": 3841186
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3841187C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28702,
          "referenceAllele": "C",
          "start": 28701
        }
      ],
      "hgvs": [
        "NG_008131.3:g.28702C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000877"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.7:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.2:p.Arg330Cys",
        "hgvsWellDefined": "ENSP00000477429.2:p.Arg330Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.988C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.988C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Arg330Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Arg330Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.9:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Arg440Cys",
        "hgvsWellDefined": "ENSP00000313377.4:p.Arg440Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000336066.8:c.*329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477229.2:n.*329C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.6:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.2:p.Arg330Cys",
        "hgvsWellDefined": "ENSP00000477429.2:p.Arg330Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000643504.2:c.*618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495157.2:n.*618C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000646394.1:c.815C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000316562.8:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313377.4:p.Arg440Cys",
        "hgvsWellDefined": "ENSP00000313377.4:p.Arg440Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000336066.7:c.*329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477229.1:n.*329C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000464452.1:n.553C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000495692.5:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476745.1:p.Arg4Cys",
        "hgvsWellDefined": "ENSP00000476745.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000497424.5:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417609.1:p.Arg149Cys",
        "hgvsWellDefined": "ENSP00000417609.1:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000610179.5:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477429.1:p.Arg317Cys",
        "hgvsWellDefined": "ENSP00000477429.1:p.Arg317Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "ENST00000621507.1:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481523.1:p.Arg149Cys",
        "hgvsWellDefined": "ENSP00000481523.1:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047484",
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.4:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Arg149Cys",
        "hgvsWellDefined": "NP_079236.3:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458835",
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.2:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Arg440Cys",
        "hgvsWellDefined": "NP_705902.2:p.Arg440Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332010",
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.2:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Arg149Cys",
        "hgvsWellDefined": "NP_705904.1:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260835.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260892.1:p.Arg235Cys",
        "hgvsWellDefined": "XP_005260892.1:p.Arg235Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.3:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:p.Arg149Cys",
        "hgvsWellDefined": "XP_005260893.3:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_006723631.1:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723694.1:p.Arg149Cys",
        "hgvsWellDefined": "XP_006723694.1:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "endIntronDirection": "+",
          "endIntronOffset": 1710,
          "referenceAllele": "C",
          "start": 1296,
          "startIntronDirection": "+",
          "startIntronOffset": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.1:c.1235+1710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:n.1235+1710C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244338",
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.1:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:p.Arg149Cys",
        "hgvsWellDefined": "NP_001311120.1:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027043",
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324193.1:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311122.1:p.Arg4Cys",
        "hgvsWellDefined": "NP_001311122.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047484",
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.5:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Arg149Cys",
        "hgvsWellDefined": "NP_079236.3:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458835",
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "C",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.3:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Arg440Cys",
        "hgvsWellDefined": "NP_705902.2:p.Arg440Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332010",
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.3:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Arg149Cys",
        "hgvsWellDefined": "NP_705904.1:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.1:n.1342C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260835.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260892.1:p.Arg235Cys",
        "hgvsWellDefined": "XP_005260892.1:p.Arg235Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_005260836.4:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260893.3:p.Arg149Cys",
        "hgvsWellDefined": "XP_005260893.3:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "endIntronDirection": "+",
          "endIntronOffset": 1710,
          "referenceAllele": "C",
          "start": 1258,
          "startIntronDirection": "+",
          "startIntronOffset": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_011529364.3:c.1235+1710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527666.1:n.1235+1710C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028077.2:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883566.1:p.Arg4Cys",
        "hgvsWellDefined": "XP_016883566.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028078.2:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883567.1:p.Arg4Cys",
        "hgvsWellDefined": "XP_016883567.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_017028079.2:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883568.1:p.Arg4Cys",
        "hgvsWellDefined": "XP_016883568.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XM_024452002.1:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307770.1:p.Arg4Cys",
        "hgvsWellDefined": "XP_024307770.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "XR_002958533.1:n.2106C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827244338",
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324191.2:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311120.1:p.Arg149Cys",
        "hgvsWellDefined": "NP_001311120.1:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916027043",
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001324193.2:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311122.1:p.Arg4Cys",
        "hgvsWellDefined": "NP_001311122.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830047484",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_024960.6:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079236.3:p.Arg149Cys",
        "hgvsWellDefined": "NP_079236.3:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NR_136715.2:n.889C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829112081",
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_001386393.1:c.988C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373322.1:p.Arg330Cys",
        "hgvsWellDefined": "NP_001373322.1:p.Arg330Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724500",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610179.7:c.988C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386393.1:c.988C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000477429.2:p.Arg330Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001373322.1:p.Arg330Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458835",
      "coordinates": [
        {
          "allele": "T",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153638.4:c.1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705902.2:p.Arg440Cys",
        "hgvsWellDefined": "NP_705902.2:p.Arg440Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332010",
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015894",
      "geneNCBI_id": 80025,
      "geneSymbol": "PANK2",
      "hgvs": [
        "NM_153640.4:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_705904.1:p.Arg149Cys",
        "hgvsWellDefined": "NP_705904.1:p.Arg149Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729486"
    }
  ],
  "type": "nucleotide"
}